Patient1: Male, Birth onset
CasePresentingHPOs: HP:0001644, HP:0012420, HP:0002098, HP:0001640, HP:0002375, HP:0002789, HP:0001649, HP:0030148, HP:0001252, HP:0001712, HP:0025168, HP:0009128, HP:0002878 (Dilated cardiomyopathy, Meconium stained amniotic fluid, Respiratory difficulty, Cardiomegaly, Hypokinesia, Tachypnea, Tachycardia, Heart murmur, Muscle hypotonia, Left ventricular hypertrophy, Left ventricular diastolic dysfunction, Absent/underdeveloped muscles of extremities, Respiratory failure)
HPOsFreeText: Apgar scores were 2155, birth weight was 3,764 g, length was 50.5 cm, Mild diffuse pulmonary markings, Had a grade II ejection systolic murmur at the left upper sternal border with intermittent gallop, A cardiac catheterization with myocardial biopsy was performed on day of life 30 which revealed marked vacuolization of cardiac myocytes, Analysis of plasma GAA activity revealed a significant deficiency (4 pmoles/hr/spot, reference range 24–94), Moderately elevated urine glucose tetrasaccharide (Hex4) of 29.6 mmol/mol creatinine (reference range: <19 for age <6 months)
NotHPOsFreeText: The ECG showed sinus rhythm with a ventricular right axis deviation without pathognomonic changes of Pompe disease, Extremities were freely moveable, Newborn screening was normal
CaseAddInfo: Non‐consanguineous product of a term pregnancy born to a G3P2 mother, Pregnancy was complicated by limited prenatal care, cannabinoid, and amphetamine use, Family history was negative for neuromuscular diseases but significant for multiple sclerosis and seizure disorders